Incidental Mutation 'IGL02631:Ccdc83'
| ID |
301308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc83
|
| Ensembl Gene |
ENSMUSG00000030617 |
| Gene Name |
coiled-coil domain containing 83 |
| Synonyms |
4932423M01Rik, 4930549K11Rik, 4930554C01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
89873081-89914985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89893277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 160
(D160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040413]
[ENSMUST00000107220]
[ENSMUST00000107221]
|
| AlphaFold |
Q9D4V3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040413
AA Change: D160G
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047758
Gene: ENSMUSG00000030617
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107220
AA Change: D160G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102838
Gene: ENSMUSG00000030617
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107221
AA Change: D160G
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102839
Gene: ENSMUSG00000030617
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
|
coiled coil region
|
107 |
182 |
N/A |
INTRINSIC |
|
Blast:BROMO
|
202 |
232 |
1e-5 |
BLAST |
|
low complexity region
|
241 |
249 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
A |
3: 103,063,387 (GRCm39) |
M608K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
| Other mutations in Ccdc83 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Ccdc83
|
APN |
7 |
89,893,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Ccdc83
|
APN |
7 |
89,896,313 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01394:Ccdc83
|
APN |
7 |
89,873,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Ccdc83
|
APN |
7 |
89,886,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Ccdc83
|
UTSW |
7 |
89,896,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4354001:Ccdc83
|
UTSW |
7 |
89,873,182 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0189:Ccdc83
|
UTSW |
7 |
89,875,891 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Ccdc83
|
UTSW |
7 |
89,877,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1441:Ccdc83
|
UTSW |
7 |
89,893,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Ccdc83
|
UTSW |
7 |
89,908,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1781:Ccdc83
|
UTSW |
7 |
89,899,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Ccdc83
|
UTSW |
7 |
89,873,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Ccdc83
|
UTSW |
7 |
89,893,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Ccdc83
|
UTSW |
7 |
89,893,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Ccdc83
|
UTSW |
7 |
89,908,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2271:Ccdc83
|
UTSW |
7 |
89,873,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Ccdc83
|
UTSW |
7 |
89,877,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Ccdc83
|
UTSW |
7 |
89,885,575 (GRCm39) |
intron |
probably benign |
|
|
R3712:Ccdc83
|
UTSW |
7 |
89,885,563 (GRCm39) |
intron |
probably benign |
|
|
R4241:Ccdc83
|
UTSW |
7 |
89,896,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4260:Ccdc83
|
UTSW |
7 |
89,877,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4374:Ccdc83
|
UTSW |
7 |
89,875,986 (GRCm39) |
nonsense |
probably null |
|
|
R5071:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5074:Ccdc83
|
UTSW |
7 |
89,899,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5749:Ccdc83
|
UTSW |
7 |
89,873,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Ccdc83
|
UTSW |
7 |
89,885,524 (GRCm39) |
intron |
probably benign |
|
|
R6283:Ccdc83
|
UTSW |
7 |
89,885,615 (GRCm39) |
nonsense |
probably null |
|
|
R6574:Ccdc83
|
UTSW |
7 |
89,875,885 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6725:Ccdc83
|
UTSW |
7 |
89,896,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Ccdc83
|
UTSW |
7 |
89,873,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Ccdc83
|
UTSW |
7 |
89,873,138 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7511:Ccdc83
|
UTSW |
7 |
89,886,130 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7750:Ccdc83
|
UTSW |
7 |
89,873,190 (GRCm39) |
nonsense |
probably null |
|
|
R7773:Ccdc83
|
UTSW |
7 |
89,879,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Ccdc83
|
UTSW |
7 |
89,893,290 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Ccdc83
|
UTSW |
7 |
89,873,286 (GRCm39) |
nonsense |
probably null |
|
|
R8416:Ccdc83
|
UTSW |
7 |
89,885,513 (GRCm39) |
missense |
unknown |
|
|
R9182:Ccdc83
|
UTSW |
7 |
89,886,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Ccdc83
|
UTSW |
7 |
89,896,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Ccdc83
|
UTSW |
7 |
89,893,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation